骨外间叶性软骨肉瘤个案报道及文献回顾

Extraskeletal mesenchymal chondrosarcoma:case report and review of the literature

目的:骨外间叶性软骨肉瘤是一种罕见恶性肿瘤,现报道1例左大腿骨外间叶性软骨肉瘤,并回顾相关文献,以提高对该疾病的认识。方法:一位25岁女性于2015年10月收入我科,其肿瘤位于左大腿。在完善术前检查后进行手术,术后病理结果提示骨外间叶性软骨肉瘤。本文对该病例的临床病理资料、影像学资料、基因突变检测结果进行分析,并查阅文献总结该疾病的临床病理特征。结果:该肿瘤标本大小约12 cm×8 cm×6 cm,质硬,切面呈鱼肉状。H-E染色可见小细胞恶性肿瘤,伴软骨化生。免疫组织化学染色显示CD99抗原强阳性表达,荧光原位杂交显示SYT基因断裂阴性,确诊为骨外间叶性软骨肉瘤。结论:骨外间叶性软骨肉瘤是一种罕见的高度恶性肿瘤,需要进行影像学检查、特异性抗原染色和相关基因突变检测才能明确诊断并制定合理治疗方案。

Objective： Extraskeletal mesenchymal chondrosarcoma （EMC） is very rare tumor. Here we reported a female case located in the thigh, and briefly reviewed the literatures on this tumor. Methods： A 25-year-old female was admitted into our clinic in Oct. 2015, with a painless mass in the left thigh. After regular examinations, surgical removal of the tumor was performed. Pathological examination diagnosed this tumor as EMC. We collected the clinicopathological data, radiographic results, and gene mutation testing results. And we reviewed the relative literatures to summarize the above features of this tumor. Results： The sample of this tumor measured about 12 cm × 8 cm × 6 cm, had a hard touch, and a fish-flesh cut surface. H-E staining showed it was a small cell malignant tumor with the differentiation of cartilage islands. Immunohistochemistry staining observed strong expression of CD99 in tumor. Fluorescence in situ hybridization testing excluded the SYT gene disruption. Based on above results, this tumor was diagnosed as EMC. Conclusion： EMC is a rare highly malignant tumor. Radiographic examinations, immunohistochemistry staining of specific antigen, and the detection of relative gene mutation were necessary to make the diagnose, and rational therapy plan.